{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T12:14:16Z","timestamp":1791980056165,"version":"4.4.0"},"reference-count":19,"publisher":"The Korean Movement Disorder Society","issue":"3","license":[{"start":{"date-parts":[[2024,4,11]],"date-time":"2024-04-11T00:00:00Z","timestamp":1712793600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"National Key Research and Development Program of China","award":["2022YFC2703600"],"award-info":[{"award-number":["2022YFC2703600"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82301385"],"award-info":[{"award-number":["82301385"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["e-jmd.org"],"crossmark-restriction":true},"short-container-title":["JMD"],"published-print":{"date-parts":[[2024,7,31]]},"abstract":"<jats:p>Objective Sialidosis type 2 has variants that are both catalytically inactive (severe), while sialidosis type 1 has at least one catalytically active (mild) variant. This study aimed to discuss the structural changes associated with these variants in a newly reported family carrying N-acetyl-\u03b1-neuraminidase-1 (&lt;i&gt;NEU1&lt;\/i&gt;) variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1.Methods First, whole-exome sequencing and detailed clinical examinations were performed on the family. Second, structural analyses, including assessments of energy, flexibility and polar contacts, were conducted for several &lt;i&gt;NEU1&lt;\/i&gt; variants, and a sialidase activity assay was performed. Third, previous &lt;i&gt;NEU1&lt;\/i&gt; variants were systematically reviewed, and the clinical characteristics of patients in the severe-mild and mild-mild groups with sialidosis type 1 were analyzed.Results We report a novel family with sialidosis type 1 and the compound heterozygous variants S182G and V143E. The newly identified V143E variant was predicted to be a mild variant through structural analysis and was confirmed by a sialidase activity assay. Cherry-red spots were more prevalent in the severe-mild group, and ataxia was more common in the mild-mild group. Impaired cognition was found only in the severe-mild group. Moreover, patients with cherry-red spots and abnormal electroencephalographies and visual evoked potentials had a relatively early age of onset, whereas patients with myoclonus had a late onset.Conclusion Changes in flexibility and local polar contacts may be indicators of &lt;i&gt;NEU1&lt;\/i&gt; pathogenicity. Sialidosis type 1 can be divided into two subgroups according to the variant combinations, and patients with these two subtypes have different clinical characteristics.<\/jats:p>","DOI":"10.14802\/jmd.23145","type":"journal-article","created":{"date-parts":[[2024,4,11]],"date-time":"2024-04-11T05:29:45Z","timestamp":1712813385000},"page":"282-293","update-policy":"https:\/\/doi.org\/10.14802\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 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